1.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
2.Incidence of complicated appendicitis before and after the COVID-19 pandemic: a comparative analysis
Haksoo KIM ; Dongkil JEONG ; Young Soon CHO ; Geum Jong SONG ; Hyung Jun MOON ; Tae Yong SHIN ; Dong Wook LEE ; Hyun Joon KIM ; Hyun Jung LEE ; Sun In HONG
Journal of the Korean Society of Emergency Medicine 2025;36(1):12-19
Objective:
It has been 1 year since the start of the worldwide coronavirus disease-19 (COVID-19) pandemic. This study analyzed the indirect effects of COVID-19 on treating patients with non-infectious diseases by comparing the incidence of complicated appendicitis before and after the pandemic.
Methods:
The target group included patients aged at least 16 years diagnosed with acute appendicitis between February 23 and July 31, 2020. Patients diagnosed during the same period in 2019 were selected as the control group. The differences in the incidence of complicated appendicitis before and after COVID-19 were investigated, and the association with various variables was analyzed using the odds ratios and 95% confidence intervals (CIs).
Results:
The study included 120 subjects in 2019 (pre-COVID group) and 119 cases in 2020 (post-COVID group). The pre-COVID group included 25 cases (20.8%) of complicated appendicitis, while the post-COVID group included 48 cases (40.3%). The median time from symptom onset to visit (pre-hospital time) increased from 15 to 22 hours, and the median time from the visit to surgery (in-hospital time) increased from 7 to 11 hours. Multivariate regression analysis of the three variables revealed odds ratios (95% CIs) of pre-hospital time, erythrocyte sedimentation rate, and inclusion in the post-COVID group of 1.02 (1.01-1.02), 2.07 (1.11-3.86), and 2.15 (1.12-4.11), respectively.
Conclusion
The incidence of complicated appendicitis increased after the COVID-19 pandemic. Therefore, a healthcare system that can minimize the delay in treating non-infectious emergency patients is needed.
3.Nephrogenic diabetes insipidus secondary to COVID-19 infection in a patient on lithium medication: a case report
Jong-In CHOI ; Somin LEE ; Hyun Lee KIM ; Jong-Hoon CHUNG ; Byung Chul SHIN ; Youngmin YOON
Journal of the Korean Society of Emergency Medicine 2025;36(1):41-44
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria and polydipsia, high serum osmolality, and low urine osmolality because of resistance to antidiuretic hormone. Lithium is commonly used to treat psychiatric disorders, and NDI is one of the common renal side effects of lithium therapy. On the other hand, NDI induced by lithium medication in a patient after a coronavirus disease-19 (COVID-19) infection has not been reported. This paper presents a patient who developed new-onset NDI secondary to a COVID-19 infection despite being on a stable lithium dose for several years. This case highlights the importance of considering a COVID-19 infection as a possible cause of NDI in patients taking lithium medication.
4.Effects of Deep Learning-Based Reconstruction on the Quality of Accelerated Contrast-Enhanced Neck MRI
Minkook SEO ; Kook-Jin AHN ; Hyun-Soo LEE ; Marcel Dominik NICKEL ; Jinhee JANG ; Yeon Jong HUH ; Ilah SHIN ; Ji Young LEE ; Bum-soo KIM
Korean Journal of Radiology 2025;26(5):446-459
Objective:
To compare the quality of deep learning-reconstructed turbo spin-echo (DL-TSE) and conventionally interpolated turbo spin-echo (Conv-TSE) techniques in contrast-enhanced MRI of the neck.
Materials and Methods:
Contrast-enhanced T1-weighted DL-TSE and Conv-TSE images were acquired using 3T scanners from 106 patients. DL-TSE employed a closed-source, ‘work-in-progress’ (WIP No. 1062, iTSE, version 10; Siemens Healthineers) algorithm for interpolation and denoising to achieve the same in-plane resolution (axial: 0.26 x 0.26 mm 2 ; coronal: 0.29 x 0.29 mm 2 ) while reducing scan times by 15.9% and 52.6% for axial and coronal scans, respectively. The full width at half maximum (FWHM) and percent signal ghosting were measured using stationary and flow phantom scans, respectively. In patient images, non-uniformity (NU), contrast-to-noise ratio (CNR), and regional mucosal FWHM were evaluated. Two neuroradiologists visually rated the patient images for overall quality, sharpness, regional mucosal conspicuity, artifacts, and lesions using a 5-point Likert scale.
Results:
FWHM in the stationary phantom scan was consistently sharper in DL-TSE. The percent signal ghosting outside the flow phantom was lower in DL-TSE (0.06% vs. 0.14%) but higher within the phantom (8.92% vs. 1.75%) compared to ConvTSE. In patient scans, DL-TSE showed non-inferior NU and higher CNR. Regional mucosal FWHM was significantly better in DL-TSE, particularly in the oropharynx (coronal: 1.08 ± 0.31 vs. 1.52 ± 0.46 mm) and hypopharynx (coronal: 1.26 ± 0.35 vs. 1.91 ± 0.56 mm) (both P < 0.001). DL-TSE demonstrated higher overall image quality (axial: 4.61 ± 0.49 vs. 3.32 ± 0.54) and sharpness (axial: 4.40 ± 0.56 vs. 3.11 ± 0.53) (both P < 0.001). In addition, mucosal conspicuity was improved, especially in the oropharynx (axial: 4.41 ± 0.67 vs. 3.40 ± 0.69) and hypopharynx (axial: 4.45 ± 0.58 vs. 3.58 ± 0.63) (both P < 0.001).Extracorporeal ghost artifacts were reduced in DL-TSE (axial: 4.32 ± 0.60 vs. 3.90 ± 0.71, P < 0.001) but artifacts overlapping anatomical structures were slightly more pronounced (axial: 3.78 ± 0.74 vs. 3.95 ± 0.72, P < 0.001). Lesions were detected with higher confidence in DL-TSE.
Conclusion
DL-based reconstruction applied to accelerated neck MRI improves overall image quality, sharpness, mucosal conspicuity in motion-prone regions, and lesion detection confidence. Despite more pronounced ghost artifacts overlapping anatomical structures, DL-TSE enables substantial scan time reduction while enhancing diagnostic performance.
5.Comparative Analysis of Romosozumab Versus Vertebroplasty With Denosumab: Efficacy, Safety, and Secondary Bone Mineral Density Outcomes
Hyun Woong MUN ; Jong Joo LEE ; Hyun Chul SHIN ; Tae-Hwan KIM ; Seok Woo KIM ; Jae Keun OH
Neurospine 2025;22(1):69-77
Objective:
This study aimed to compare the efficacy and safety of romosozumab, a bone anabolic agent, versus vertebroplasty, a conventional surgical intervention, in treating osteoporotic vertebral compression fractures (OVCFs).
Methods:
A retrospective analysis included 86 thoracic/lumbar compression fracture patients from 2014 to 2022 at a medical center. Forty-two patients received romosozumab (monthly injections for 1 year) followed by 1 year of denosumab, while 44 underwent vertebroplasty followed by denosumab injections biannually for 2 years. Outcomes were assessed using the Numerical Rating Scale (NRS) for pain, bone mineral density (BMD), vertebral compression ratio, and Cobb angle over 12 months.
Results:
At 12 months, the romosozumab group showed a greater reduction in NRS scores (4.90 ± 1.01 vs. 4.27 ± 1.34, p = 0.015) and a higher increase in lumbar BMD (0.8 ± 0.5 vs. 0.5 ± 0.3, p = 0.000) compared to the vertebroplasty group. There were no significant differences in changes in hip total BMD and femur neck BMD (p = 0.190, p = 0.167, respectively). Radiographic assessments showed no significant differences in vertebral compression ratio (14.7% vs. 14.8%; p = 0.960) or Cobb angle (4.2° vs. 4.9°; p = 0.302). The incidence of major osteoporotic fractures was lower in the romosozumab group (7.1% vs. 25.0%, p = 0.051), with similar rates of cardiovascular events in both groups (4.8% vs. 9.1%, p = 0.716).
Conclusion
Romosozumab has demonstrated superior pain reduction and lumbar BMD improvement compared to vertebroplasty at 12 months, with no significant differences in radiographic outcomes or adverse events, suggesting it as an alternative to vertebroplasty for OVCF.
6.Cannabidiol Alleviates Chronic Prostatitis and Chronic Pelvic Pain Syndrome via CB2 Receptor Activation and TRPV1 Desensitization
Jun Jie PIAO ; Soomin KIM ; Dongho SHIN ; Hwa Jong LEE ; Kyung-Hwa JEON ; Wen Jie TIAN ; Kyung Jae HUR ; Jong Soo KANG ; Hyun-Je PARK ; Joo Young CHA ; Aeri SONG ; Sang-Hyuck PARK ; Mahadevan RAJASEKARAN ; Woong Jin BAE ; Sungjoo KIM YOON ; Sae Woong KIM
The World Journal of Men's Health 2025;43(1):228-238
Purpose:
This study elucidates the mechanism of the physiological effect of cannabidiol (CBD) by assessing its impact on lipopolysaccharide (LPS)-induced inflammation in RWPE-1 cells and prostatitis-induced by 17β-estradiol and dihydrotestosterone in a rat model, focusing on its therapeutic potential for chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS).
Materials and Methods:
RWPE-1 cells were stratified in vitro into three groups: (1) controls, (2) cells with LPS-induced inflammation, and (3) cells with LPS-induced inflammation and treated with CBD. Enzyme-linked immunosorbent assays and western blots were performed on cellular components and supernatants after administration of CBD. Five groups of six Sprague–Dawley male rats were assigned: (1) control, (2) CP/CPPS, (3) CP/CPPS and treated with 50 mg/kg CBD, (4) CP/CPPS and treated with 100 mg/kg CBD, and (5) CP/CPPS and treated with 150 mg/kg CBD. Prostatitis was induced through administration of 17β-estradiol and dihydrotestosterone. After four weeks of CBD treatment, a pain index was evaluated, and prostate tissue was collected for subsequent histologic examination and western blot analysis.
Results:
CBD demonstrated efficacy in vivo for CP/CPPS and in vitro for inflammation. It inhibited the toll-like receptor 4 (TLR4)uclear factor-kappa B (NF-κB) pathway by activating the CB2 receptor, reducing expression of interleukin-6, tumor necrosis factor-alpha, and cyclooxygenase-2 (COX2) (p<0.01). CBD exhibited analgesic effects by activating and desensitizing the TRPV1 receptor.
Conclusions
CBD inhibits the TLR4/NF-κB pathway by activating the CB2 receptor, desensitizes the TRPV1 receptor, and decreases the release of COX2. This results in relief of inflammation and pain in patients with CP/CPPS, indicating CBD as a potential treatment for CP/CPPS.
7.Primary Cutaneous CD30+ Lymphoproliferative Disorders in South Korea: A Nationwide, Multi-Center, Retrospective, Clinical, and Prognostic Study
Woo Jin LEE ; Sook Jung YUN ; Joon Min JUNG ; Joo Yeon KO ; Kwang Ho KIM ; Dong Hyun KIM ; Myung Hwa KIM ; You Chan KIM ; Jung Eun KIM ; Chan-Ho NA ; Je-Ho MUN ; Jong Bin PARK ; Ji-Hye PARK ; Hai-Jin PARK ; Dong Hoon SHIN ; Jeonghyun SHIN ; Sang Ho OH ; Seok-Kweon YUN ; Dongyoun LEE ; Seok-Jong LEE ; Seung Ho LEE ; Young Bok LEE ; Soyun CHO ; Sooyeon CHOI ; Jae Eun CHOI ; Mi Woo LEE ; On behalf of The Korean Society of Dermatopathology
Annals of Dermatology 2025;37(2):75-85
Background:
Primary cutaneous CD30+ lymphoproliferative disorders (pcCD30-LPDs) are a diseases with various clinical and prognostic characteristics.
Objective:
Increasing our knowledge of the clinical characteristics of pcCD30-LPDs and identifying potential prognostic variables in an Asian population.
Methods:
Clinicopathological features and survival data of pcCD30-LPD cases obtained from 22 hospitals in South Korea were examined.
Results:
A total of 413 cases of pcCD30-LPDs (lymphomatoid papulosis [LYP], n=237; primary cutaneous anaplastic large cell lymphoma [C-ALCL], n=176) were included. Ninety percent of LYP patients and roughly 50% of C-ALCL patients presented with multiple skin lesions. Both LYP and C-ALCL affected the lower limbs most frequently. Multiplicity and advanced T stage of LYP lesions were associated with a chronic course longer than 6 months. Clinical morphology with patch lesions and elevated serum lactate dehydrogenase were significantly associated with LPDs during follow-up in LYP patients. Extracutaneous involvement of C-ALCL occurred in 13.2% of patients. Lesions larger than 5 cm and increased serum lactate dehydrogenase were associated with a poor prognosis in C-ALCL. The survival of patients with C-ALCL was unaffected by the anatomical locations of skin lesions or other pathological factors.
Conclusion
The multiplicity or size of skin lesions was associated with a chronic course of LYP and survival among patients with C-ALCL.
8.TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study
Hyun-Young KIM ; Saeam SHIN ; Jong-Mi LEE ; In-Suk KIM ; Boram KIM ; Hee-Jin KIM ; Yu Jeong CHOI ; Byunggyu BAE ; Yonggoo KIM ; Eunhui JI ; Hyerin KIM ; Hyerim KIM ; Jee-Soo LEE ; Yoon Hwan CHANG ; Hyun Kyung KIM ; Ja Young LEE ; Shinae YU ; Miyoung KIM ; Young-Uk CHO ; Seongsoo JANG ; Myungshin KIM
Annals of Laboratory Medicine 2025;45(2):160-169
Background:
TP53 mutations are associated with poor prognosis in myelodysplastic neoplasm (MDS) and AML. The updated 5th WHO classification and International Consensus Classification (ICC) categorize TP53-mutated MDS and AML as unique entities. We conducted a multicenter study in Korea to investigate the characteristics of TP53-mutated MDS and AML, focusing on diagnostic aspects based on updated classifications.
Methods:
This study included patients aged ≥ 18 yrs who were diagnosed as having MDS(N = 1,244) or AML (N = 2,115) at six institutions. The results of bone marrow examination, cytogenetic studies, and targeted next-generation sequencing, including TP53, were collected and analyzed.
Results:
TP53 mutations were detected in 9.3% and 9.2% of patients with MDS and AML, respectively. Missense mutation was the most common, with hotspot codons R248/ R273/G245/Y220/R175/C238 accounting for 25.4% of TP53 mutations. Ten percent of patients had multiple TP53 mutations, and 78.4% had a complex karyotype. The median variant allele frequency (VAF) of TP53 mutations was 41.5%, with a notable difference according to the presence of a complex karyotype. According to the 5th WHO classification and ICC, the multi-hit TP53 mutation criteria were met in 58.6% and 75% of MDS patients, respectively, and the primary determinants were a TP53 VAF > 50% for the 5th WHO classification and the presence of a complex karyotype for the ICC.
Conclusions
Collectively, we elucidated the molecular genetic characteristics of patients with TP53-mutated MDS and AML, highlighting key factors in applying TP53 mutation-related criteria in updated classifications, which will aid in establishing diagnostic strategies.
9.Comparison of Two Quinupristin–dalfopristin Susceptibility Testing Methods and Two Interpretive Criteria for Enterococcus faecium Bloodstream Isolates from Korean Hospitals
Yong Jun KWON ; Ha Jin LIM ; Soo Hyun KIM ; Seung A BYUN ; Ga Yeong LEE ; Ga-Gyeong KIM ; Seok Hoon JEONG ; Jeong Hwan SHIN ; Young Ah KIM ; Young UH ; Jong Hee SHIN
Annals of Laboratory Medicine 2025;45(6):630-634
Enterococcus faecium, particularly in its multidrug-resistant forms, causes invasive nosocomial infections. Given the limited data comparing the effectiveness of the European Committee on Antimicrobial Susceptibility Testing (EUCAST) and the CLSI clinical breakpoints (CBPs) for quinupristin–dalfopristin (QD) resistance and the need to evaluate their practical application, we retrospectively investigated the susceptibility patterns of 287 E.faecium bloodstream isolates from Korean hospitals to QD using the updated EUCAST and CLSI CBPs and two antimicrobial susceptibility testing methods: disk diffusion (DD) and Sensititre broth microdilution (Sensititre). QD resistance rates were 5.9% (CLSI) and 18.8% (EUCAST) for DD and 22.6% (CLSI) and 28.2% (EUCAST) for Sensititre. The most prevalent QD resistance gene types among QD-resistant isolates were ermB+msrC+ or ermB– msrC+. Categorical agreement between DD and Sensititre ranged from 77.7% to 90.7%, depending on the testing method and CBPs applied. The EUCAST zone diameter CBPs more effectively help identify QD-resistant E. faecium isolates using the DD method than the CLSI zone diameter CBPs. In comparison, the CLSI minimum inhibitory concentration (MIC) CBPs provide more reliable results for resistance classification in the Sensititre method than EUCAST MIC CBPs. These findings would help improve clinical decision-making for treating multidrug-resistant E. faecium infections.
10.Effects of Deep Learning-Based Reconstruction on the Quality of Accelerated Contrast-Enhanced Neck MRI
Minkook SEO ; Kook-Jin AHN ; Hyun-Soo LEE ; Marcel Dominik NICKEL ; Jinhee JANG ; Yeon Jong HUH ; Ilah SHIN ; Ji Young LEE ; Bum-soo KIM
Korean Journal of Radiology 2025;26(5):446-459
Objective:
To compare the quality of deep learning-reconstructed turbo spin-echo (DL-TSE) and conventionally interpolated turbo spin-echo (Conv-TSE) techniques in contrast-enhanced MRI of the neck.
Materials and Methods:
Contrast-enhanced T1-weighted DL-TSE and Conv-TSE images were acquired using 3T scanners from 106 patients. DL-TSE employed a closed-source, ‘work-in-progress’ (WIP No. 1062, iTSE, version 10; Siemens Healthineers) algorithm for interpolation and denoising to achieve the same in-plane resolution (axial: 0.26 x 0.26 mm 2 ; coronal: 0.29 x 0.29 mm 2 ) while reducing scan times by 15.9% and 52.6% for axial and coronal scans, respectively. The full width at half maximum (FWHM) and percent signal ghosting were measured using stationary and flow phantom scans, respectively. In patient images, non-uniformity (NU), contrast-to-noise ratio (CNR), and regional mucosal FWHM were evaluated. Two neuroradiologists visually rated the patient images for overall quality, sharpness, regional mucosal conspicuity, artifacts, and lesions using a 5-point Likert scale.
Results:
FWHM in the stationary phantom scan was consistently sharper in DL-TSE. The percent signal ghosting outside the flow phantom was lower in DL-TSE (0.06% vs. 0.14%) but higher within the phantom (8.92% vs. 1.75%) compared to ConvTSE. In patient scans, DL-TSE showed non-inferior NU and higher CNR. Regional mucosal FWHM was significantly better in DL-TSE, particularly in the oropharynx (coronal: 1.08 ± 0.31 vs. 1.52 ± 0.46 mm) and hypopharynx (coronal: 1.26 ± 0.35 vs. 1.91 ± 0.56 mm) (both P < 0.001). DL-TSE demonstrated higher overall image quality (axial: 4.61 ± 0.49 vs. 3.32 ± 0.54) and sharpness (axial: 4.40 ± 0.56 vs. 3.11 ± 0.53) (both P < 0.001). In addition, mucosal conspicuity was improved, especially in the oropharynx (axial: 4.41 ± 0.67 vs. 3.40 ± 0.69) and hypopharynx (axial: 4.45 ± 0.58 vs. 3.58 ± 0.63) (both P < 0.001).Extracorporeal ghost artifacts were reduced in DL-TSE (axial: 4.32 ± 0.60 vs. 3.90 ± 0.71, P < 0.001) but artifacts overlapping anatomical structures were slightly more pronounced (axial: 3.78 ± 0.74 vs. 3.95 ± 0.72, P < 0.001). Lesions were detected with higher confidence in DL-TSE.
Conclusion
DL-based reconstruction applied to accelerated neck MRI improves overall image quality, sharpness, mucosal conspicuity in motion-prone regions, and lesion detection confidence. Despite more pronounced ghost artifacts overlapping anatomical structures, DL-TSE enables substantial scan time reduction while enhancing diagnostic performance.

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